Canonical Allele Identifier: CA379782054

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415278G>A (hg19) ; chr11:g.17393731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393731G>A , CM000673.2:g.17393731G>A	GRCh38
NC_000011.9:g.17415278G>A , CM000673.1:g.17415278G>A	GRCh37
NC_000011.8:g.17371854G>A	NCBI36
NG_008867.1:g.88172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4175C>T
ENST00000526037.6:n.509C>T
ENST00000528374.2:c.1165C>T
ENST00000529967.6:n.2913C>T
ENST00000532220.2:n.3807C>T
ENST00000642611.2:n.5907C>T
ENST00000644057.2:n.1150C>T
ENST00000645004.2:n.2073C>T
ENST00000682051.1:n.4736C>T
ENST00000682110.1:n.4789C>T
ENST00000682140.1:c.*360C>T	ENSP00000507829.1:n.*360C>T
ENST00000682185.1:n.5879C>T
ENST00000682204.1:c.*2712C>T	ENSP00000507094.1:n.*2712C>T
ENST00000682215.1:n.5156C>T
ENST00000682288.1:c.*3005C>T	ENSP00000507506.1:n.*3005C>T
ENST00000682442.1:n.5009C>T
ENST00000682528.1:n.4866C>T
ENST00000682673.1:n.4733C>T
ENST00000682805.1:n.5194C>T
ENST00000682965.1:c.*996C>T	ENSP00000508229.1:n.*996C>T
ENST00000683093.1:n.5769C>T
ENST00000683136.1:c.4457C>T	ENSP00000507768.1:p.Thr1486Ile
ENST00000683153.1:n.4831C>T
ENST00000683365.1:n.4891C>T
ENST00000683377.1:n.4685C>T
ENST00000683456.1:c.*1711C>T	ENSP00000508318.1:n.*1711C>T
ENST00000683522.1:n.4871C>T
ENST00000683562.1:c.*2639C>T	ENSP00000508265.1:n.*2639C>T
ENST00000683693.1:n.6250C>T
ENST00000683725.1:c.*39C>T	ENSP00000507496.1:n.*39C>T
ENST00000684010.1:n.4784C>T
ENST00000684014.1:n.761C>T
ENST00000684157.1:n.5774C>T
ENST00000684253.1:n.4692C>T
ENST00000684288.1:c.*2746C>T	ENSP00000507143.1:n.*2746C>T
ENST00000684313.1:n.4221C>T
ENST00000684332.1:n.4862C>T
ENST00000684371.1:n.4895C>T
ENST00000684404.1:n.5817C>T
ENST00000684442.1:n.5013C>T
ENST00000684555.1:c.*2786C>T	ENSP00000507705.1:n.*2786C>T
ENST00000684571.1:c.4415C>T	ENSP00000506935.1:p.Thr1472Ile
ENST00000684593.1:c.*4279C>T	ENSP00000507005.1:n.*4279C>T
ENST00000684711.1:c.*2970C>T	ENSP00000506841.1:n.*2970C>T
ENST00000302539.9:c.4577C>T	ENSP00000303960.4:p.Thr1526Ile
ENST00000389817.8:c.4574C>T MANE Select	ENSP00000374467.4:p.Thr1525Ile
ENST00000642271.1:c.4571C>T	ENSP00000493749.1:p.Thr1524Ile
ENST00000642579.1:c.2628C>T
ENST00000642611.1:n.5792C>T
ENST00000642902.1:c.4356C>T
ENST00000643260.1:c.4574C>T	ENSP00000494450.1:p.Thr1525Ile
ENST00000643562.1:c.*2696C>T	ENSP00000496124.1:n.*2696C>T
ENST00000643925.1:c.3185+535C>T
ENST00000644057.1:n.733C>T
ENST00000644484.1:c.*3960C>T	ENSP00000493558.1:n.*3960C>T
ENST00000644675.1:c.*2746C>T	ENSP00000494567.1:n.*2746C>T
ENST00000644757.1:c.*3203-751C>T	ENSP00000495085.1:n.*3203-751C>T
ENST00000644772.1:c.4640C>T	ENSP00000494321.1:p.Thr1547Ile
ENST00000645004.1:n.2267C>T
ENST00000645076.1:c.3669C>T
ENST00000645417.1:c.1762C>T
ENST00000645744.1:c.*4259C>T	ENSP00000494564.1:n.*4259C>T
ENST00000645760.1:c.4995C>T
ENST00000645884.1:c.*1857C>T	ENSP00000495516.1:n.*1857C>T
ENST00000646003.1:c.*2596C>T	ENSP00000495259.1:n.*2596C>T
ENST00000646207.1:c.*3411C>T	ENSP00000495025.1:n.*3411C>T
ENST00000646276.1:c.*3978C>T	ENSP00000496070.1:n.*3978C>T
ENST00000646592.1:c.3880C>T
ENST00000646902.1:c.4541C>T	ENSP00000494101.1:p.Thr1514Ile
ENST00000646993.1:c.*3012C>T	ENSP00000493720.1:n.*3012C>T
ENST00000647015.1:c.4325C>T	ENSP00000495389.1:p.Thr1442Ile
ENST00000647086.1:c.*4160C>T	ENSP00000493677.1:n.*4160C>T
ENST00000647158.1:c.*2861C>T	ENSP00000495744.1:n.*2861C>T
ENST00000302539.8:c.4577C>T	ENSP00000303960.4:p.Thr1526Ile
ENST00000389817.7:c.4574C>T	ENSP00000374467.3:p.Thr1525Ile
ENST00000525022.1:n.469C>T
ENST00000526037.5:n.334C>T
ENST00000526168.5:c.362C>T
ENST00000531642.5:c.605C>T
NM_000352.4:c.4574C>T	NP_000343.2:p.Thr1525Ile
NM_001287174.1:c.4577C>T	NP_001274103.1:p.Thr1526Ile
XM_011520331.1:c.4574C>T	XP_011518633.1:p.Thr1525Ile
XM_011520333.1:c.3074C>T	XP_011518635.1:p.Thr1025Ile
XR_930890.1:n.4536C>T
NM_001351295.1:c.4640C>T	NP_001338224.1:p.Thr1547Ile
NM_001351296.1:c.4574C>T	NP_001338225.1:p.Thr1525Ile
NM_001351297.1:c.4571C>T	NP_001338226.1:p.Thr1524Ile
NR_147094.1:n.4869C>T
XM_017018197.2:c.4643C>T	XP_016873686.1:p.Thr1548Ile
XM_017018199.1:c.4640C>T	XP_016873688.1:p.Thr1547Ile
XM_017018202.1:c.3140C>T	XP_016873691.1:p.Thr1047Ile
XM_017018204.1:c.2531C>T	XP_016873693.1:p.Thr844Ile
XM_024448668.1:c.2942C>T	XP_024304436.1:p.Thr981Ile
XR_001747945.2:n.4611C>T
XR_001747946.2:n.4542C>T
XR_002957189.1:n.6325C>T
NM_000352.6:c.4574C>T MANE Select	NP_000343.2:p.Thr1525Ile
NM_001287174.2:c.4577C>T	NP_001274103.1:p.Thr1526Ile
NM_001351295.2:c.4640C>T	NP_001338224.1:p.Thr1547Ile
NM_001351296.2:c.4574C>T	NP_001338225.1:p.Thr1525Ile
NM_001351297.2:c.4571C>T	NP_001338226.1:p.Thr1524Ile
NR_147094.2:n.4869C>T
NM_001287174.3:c.4577C>T	NP_001274103.1:p.Thr1526Ile